Col10a1^tm1.1Rpbh
Targeted Allele Detail

Summary

• Symbol: Col10a1^tm1.1Rpbh
• Name: collagen, type X, alpha 1; targeted mutation 1.1, Raymond P Boot-Handford
• MGI ID: MGI:4397569
• Synonyms: COL10A1 p.Asn617Lys
• Gene: Col10a1 Location: Chr10:34265977-34273081 bp, + strand Genetic Position: Chr10, 18.85 cM, cytoband B1-B3
• Alliance: Col10a1^tm1.1Rpbh page

Macroscopic analyses of the Metaphyseal Chondrodysplasia Type Schmid phenotype in Col10a1^tm1.1Rpbh/Col10a1^tm1.1Rpbh mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:154052
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Single point mutation Mutation details: A mutation (C to A) was introduced by site-directed mutagenesis. This resulted in an asparagine to lysine change at amino acid residue 617 (N617K). In addition, a floxed TK-Neo selection cassette was inserted in exon 3 after the region encoding the collagenous domain. The presence of the mutation was confirmed by direct sequencing. Transient transfection with cre recombinase removed the floxed Neo-TK selection cassette. (J:154052)

Generation of the Col10a1^tm1.1Rpbh allele

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Col10a1 Mutation: 27 strains or lines available

References

• Original: J:154052 Rajpar MH, et al., Targeted induction of endoplasmic reticulum stress induces cartilage pathology. PLoS Genet. 2009 Oct;5(10):e1000691
• All: 6 reference(s)